MCID: PGT001
MIFTS: 60

Paget's Disease of Bone

Categories: Rare diseases, Genetic diseases, Bone diseases

Aliases & Classifications for Paget's Disease of Bone

MalaCards integrated aliases for Paget's Disease of Bone:

Name: Paget's Disease of Bone 12 72 24 36 40 14
Osteitis Deformans 12 72 49 24 41 69
Paget Disease of Bone 12 49 24 28 13
Paget Disease of Bone, Familial 49 28
Osseous Paget's Disease 12 24
Pdb 49 24
Familial Paget's Disease of Bone 12
Familial Paget Disease of Bone 49
Paget's Bone Disease 12
Paget Disease, Bone 24
Pagets Bone Disease 51

Classifications:



External Ids:

Disease Ontology 12 DOID:5408
ICD10 32 M88
MeSH 41 D010001
NCIt 46 C3292
KEGG 36 H00437
UMLS 69 C0029401

Summaries for Paget's Disease of Bone

MedlinePlus : 40 Paget's disease of bone causes your bones to grow too large and weak. They also might break easily. The disease can lead to other health problems, too, such as arthritis and hearing loss. You can have Paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. The disease might affect one or several bones, but not your entire skeleton. More men than women have the disease. It is most common in older people. No one knows what causes Paget's disease. In some cases, a virus might be responsible. It tends to run in families. Many people do not know they have Paget's disease because their symptoms are mild. For others, symptoms can include Pain Enlarged bones Broken bones Damaged cartilage in joints Doctors use blood tests and imaging tests to diagnose Paget's disease. Early diagnosis and treatment can prevent some symptoms from getting worse. Treatments include medicines and sometimes surgery. A good diet and exercise might also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Paget's Disease of Bone, also known as osteitis deformans, is related to paget disease of bone 5, juvenile-onset and bone inflammation disease, and has symptoms including sciatica, muscle cramp and back pain. An important gene associated with Paget's Disease of Bone is SQSTM1 (Sequestosome 1), and among its related pathways/superpathways are Osteoclast differentiation and Cytokine Signaling in Immune system. The drugs Alendronate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include skull, pelvis and vertebral column, and related phenotypes are immune system and limbs/digits/tail

NIH Rare Diseases : 49 Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. Last updated: 12/12/2011

Genetics Home Reference : 24 Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).

Disease Ontology : 12 A bone formation disease that has material basis in hyperactive osteoclast which results_in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs.

Wikipedia : 72 Paget\'s disease of bone (commonly known as Paget\'s disease or historically, osteitis deformans) is a... more...

Related Diseases for Paget's Disease of Bone

Diseases related to Paget's Disease of Bone via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 paget disease of bone 5, juvenile-onset 30.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
2 bone inflammation disease 30.4 ACP5 TNFRSF11B TNFSF11
3 cohen-gibson syndrome 30.0 BGLAP TNFRSF11A TNFRSF11B TNFSF11
4 endosteal hyperostosis, autosomal dominant 30.0 CSF1 TNFRSF11B TNFSF11
5 osteitis fibrosa 30.0 BGLAP CALCA PTH
6 osteoporosis 27.7 ACP5 BGLAP CALCA CSF1 PTH TNFRSF11A
7 paget disease of bone 3 11.6
8 mammary paget's disease 11.5
9 paget disease of bone 2, early-onset 10.6 SQSTM1 TNFRSF11A
10 behavioral variant of frontotemporal dementia 10.5 SQSTM1 VCP
11 breast leiomyosarcoma 10.4 TNFRSF11A TNFSF11
12 periostitis 10.4 SQSTM1 TNFRSF11A TNFRSF11B
13 giant cell reparative granuloma 10.4 CALCA TNFRSF11A
14 kummell's disease 10.4 TNFRSF11B TNFSF11
15 periodontitis, chronic 10.4 TNFRSF11B TNFSF11
16 chronic apical periodontitis 10.3 TNFRSF11B TNFSF11
17 osteopetrosis, autosomal dominant 2 10.3 BGLAP TNFSF11
18 polyarticular onset juvenile idiopathic arthritis 10.3 TNFRSF11A TNFRSF11B TNFSF11
19 hemophilic arthropathy 10.3 TNFRSF11A TNFRSF11B TNFSF11
20 amyotrophic lateral sclerosis type 14 10.3 OPTN VCP
21 aneurysmal bone cysts 10.3 CALCA TNFRSF11A TNFSF11
22 axial osteomalacia 10.3 BGLAP PTH
23 osteoporosis, juvenile 10.3 BGLAP CALCA
24 extraskeletal chondroma 10.2 BGLAP PTH
25 mandibular cancer 10.2 CSF1 TNFSF11
26 spondyloarthropathy 1 10.2 BGLAP TNFRSF11B TNFSF11
27 periodontal disease 10.2 TNFRSF11A TNFRSF11B TNFSF11
28 familial expansile osteolysis 10.2 SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
29 periodontitis 10.2 BGLAP TNFRSF11B TNFSF11
30 hypercalcemia, infantile, 1 10.1 CALCA PTH
31 amyotrophic lateral sclerosis 21 10.1 OPTN VCP
32 multicentric reticulohistiocytosis 10.1 CSF1 TNFRSF11B TNFSF11
33 fibrogenesis imperfecta ossium 10.1 CALCA PTH TNFRSF11B
34 osteopetrosis 10.1 CSF1 TNFRSF11A TNFSF11
35 angioid streaks 10.1
36 root resorption 10.1 CALCA TNFRSF11A TNFRSF11B TNFSF11
37 adamantinoma of long bones 10.1 BGLAP CSF1 TNFSF11
38 motor neuron disease 10.1 OPTN SQSTM1 VCP
39 multicentric carpotarsal osteolysis syndrome 10.1 BGLAP TNFRSF11A TNFRSF11B TNFSF11
40 hypophosphatasia, adult 10.1 BGLAP CALCA PTH
41 chronic pyelonephritis 10.1 B2M CALCA
42 parathyroid gland disease 10.0 BGLAP CALCA PTH
43 mineral metabolism disease 10.0 BGLAP CALCA PTH
44 parathyroid adenoma 10.0 BGLAP CALCA PTH
45 uremic neuropathy 10.0 B2M PTH
46 arthropathy 10.0 B2M TNFRSF11B TNFSF11
47 primary hyperparathyroidism 10.0 BGLAP CALCA PTH
48 villonodular synovitis 10.0 ACP5 TNFSF11
49 prostate cancer 9.9
50 bone mineral density quantitative trait locus 8 9.9

Graphical network of the top 20 diseases related to Paget's Disease of Bone:



Diseases related to Paget's Disease of Bone

Symptoms & Phenotypes for Paget's Disease of Bone

UMLS symptoms related to Paget's Disease of Bone:


sciatica, muscle cramp, back pain

MGI Mouse Phenotypes related to Paget's Disease of Bone:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.85 TNFRSF11B TNFSF11 VCP B2M CSF1 DCSTAMP
2 limbs/digits/tail MP:0005371 9.43 TNFRSF11B TNFSF11 VCP CSF1 PTH TNFRSF11A
3 skeleton MP:0005390 9.23 TNFRSF11B TNFSF11 VCP CSF1 DCSTAMP PTH

Drugs & Therapeutics for Paget's Disease of Bone

Drugs for Paget's Disease of Bone (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 3 121268-17-5, 66376-36-1 2088
2
Zoledronic acid Approved Phase 4,Phase 3 118072-93-8 68740
3
Pamidronate Approved Phase 4 40391-99-9 4674
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
5
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
6 Bone Density Conservation Agents Phase 4,Phase 3
7 Calcium, Dietary Phase 4,Phase 3
8 Micronutrients Phase 4,Phase 3
9 Trace Elements Phase 4,Phase 3
10 Diphosphonates Phase 4,Phase 3
11 Vitamins Phase 4,Phase 3
12 Ergocalciferols Phase 4,Phase 3
13 Pharmaceutical Solutions Phase 4,Phase 3
14 Vitamin D2 Nutraceutical Phase 4,Phase 3
15 Calciferol Nutraceutical Phase 4,Phase 3
16
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
17
Etidronic acid Approved Phase 3 2809-21-4, 7414-83-7 3305
18 Risedronate Sodium Phase 3 115436-72-1
19 calcium channel blockers Phase 3
20 Fluorides
21 Protective Agents
22 Liver Extracts
23 Arginine Vasopressin
24 Cariostatic Agents

Interventional clinical trials:

(show all 17)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Single Dose of 5 mg Zoledronic Acid in Chinese Patients With Paget's Disease of Bone (PDB) Completed NCT00774020 Phase 4 Zoledronic acid
2 Re-treatment of Patients With Paget's Disease Using Zoledronic Acid Completed NCT00740129 Phase 4 Zoledronic Acid
3 Impact on Reducing the Incidence of Low Serum Calcium by Providing Educational Materials on the Need to Take Daily Supplemental Calcium and Vitamin D to Patients With Paget's Disease Treated With Reclast® Completed NCT00668200 Phase 4 Reclast (ZOL446, zoledronic acid)
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 A Pilot Study to Evaluate the Effect of Forsteo (Teriparatide, 1-34-rh-PTH) in Anorexia Nervosa Patients With Low Bone Mineral Density and Increased Bone Fagility (FAN-Trial) Unknown status NCT01801397 Phase 3 osteoanabolic therapy
6 A Research Study to Test the Effectiveness of MK0217 in Patients With Paget's Bone Disease (0217-206)(COMPLETED) Completed NCT00480662 Phase 3 alendronate
7 Safety and Efficacy Trial With Zoledronic Acid for the Treatment of Paget's Disease of Bone, Including an Extended Observation Period Completed NCT00103740 Phase 3 zoledronic acid;placebo to zoledronic acid;Risedronate;Placebo to risedronate;Calcium and vitamin D supplements
8 Safety and Efficacy Trial With Zoledronic Acid for the Treatment of Paget's Disease of Bone, Including an Extended Observation Period Completed NCT00051636 Phase 3 Zoledronic Acid;Risedronate;Placebo to Risedronate;Placebo to Zoledronic Acid
9 Preliminary Study for Identification of Calcium-Binding Proteins in the Serum in Various Metabolic Bone Disorders Unknown status NCT00403598
10 Genetic Study of Families Affected by Paget's Disease of Bone Completed NCT00747994
11 18F-Fluoride Positron Emission Tomography (PET) in Paget's Disease of Bone Completed NCT00306046 Bisphosphonate treatment
12 Sodium Risedronate Tablets - Special Drug Use Surveillance in Patients With Osseous Paget's Disease (All-case Surveillance) -48-week Surveillance − Completed NCT02106455 Sodium risedronate
13 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
14 Pathophysiology of Paget's Disease of Bone Recruiting NCT02802384
15 Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD) Recruiting NCT01353430
16 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01166854
17 Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18: Terminated NCT00615628

Search NIH Clinical Center for Paget's Disease of Bone

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: osteitis deformans

Genetic Tests for Paget's Disease of Bone

Genetic tests related to Paget's Disease of Bone:

# Genetic test Affiliating Genes
1 Paget Disease of Bone 28
2 Paget Disease of Bone, Familial 28 SQSTM1

Anatomical Context for Paget's Disease of Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Paget's Disease of Bone:

18
Skull, Pelvis, Vertebral Column, Set Of Limbs

MalaCards organs/tissues related to Paget's Disease of Bone:

38
Bone, Testes, Skin, Liver, Bone Marrow, Prostate, Monocytes

Publications for Paget's Disease of Bone

Articles related to Paget's Disease of Bone:

(show top 50) (show all 583)
# Title Authors Year
1
Prevalence of pelvic Paget's disease of bone in France. ( 29175270 )
2018
2
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. ( 28993189 )
2018
3
Prevalence of Paget's disease of bone in Lancaster: time for an update. ( 29401322 )
2018
4
Evaluation of a Patient With Temporomandibular Joint Disorders in Paget's Disease of Bone. ( 29361426 )
2018
5
Adult Paget's disease of bone: a review. ( 28339664 )
2017
6
Long-Term Randomized Trial of Intensive Versus Symptomatic Management in Paget's Disease of Bone: The PRISM-EZ Study. ( 28176386 )
2017
7
Paget's Disease of Bone Presenting with Peripheral Neuropathy. ( 29279507 )
2017
8
A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation. ( 29127544 )
2017
9
Long-Term Bone Scintigraphy Results After Intravenous Zoledronate in Paget's Disease of Bone. ( 28324123 )
2017
10
A FKBP5 mutation is associated with Paget's disease of bone and enhances osteoclastogenesis. ( 28524179 )
2017
11
Paget's disease of bone. ( 28780255 )
2017
12
Circulating Dickkopf-1 and sclerostin in patients with Paget's disease of bone. ( 28054306 )
2017
13
Bisphosphonates for Paget's disease of bone in adults. ( 29192423 )
2017
14
Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone. ( 29145829 )
2017
15
The Changing Presentation of Paget's Disease of Bone in Australia, A High Prevalence Region. ( 28884211 )
2017
16
NFAM1 signaling enhances osteoclast formation and bone resorption activity in Paget's disease of bone. ( 28506889 )
2017
17
Antibody Response to Paramyxoviruses in Paget's Disease of Bone. ( 28361207 )
2017
18
Determinants of quality of life in Paget's disease of bone. ( 28967630 )
2017
19
A likely cranial osteodystrophy (Paget's disease of bone) in a Precolumbian, Mesoamerican stone sculpture. ( 28255822 )
2017
20
Total hip arthroplasty in patients with Paget's disease of bone: A systematic review. ( 28473965 )
2017
21
Proangiogenic gene polymorphisms are associated with susceptibility to Paget's disease of bone and with its clinical features. ( 28339363 )
2017
22
Clinical and Genetic Advances in Paget's Disease of Bone: a Review. ( 28255281 )
2017
23
Familial Early-Onset Paget's Disease of Bone Associated with a Novel hnRNPA2B1 Mutation. ( 28389692 )
2017
24
Environmental factors associated with familial or non-familial forms of Paget's disease of bone. ( 27932202 )
2016
25
Giant Cell Tumor Developing in Paget's Disease of Bone: A Case Report with Review of Literature. ( 28164066 )
2016
26
The changing countenance of Paget's Disease of bone. ( 27068613 )
2016
27
Computer-assisted quantitative evaluation of bisphosphonate treatment for Paget's disease of bone using the bone scan index. ( 28105116 )
2016
28
Pathological fracture of the femur in a patient with Paget's disease of bone: a case report. ( 27516041 )
2016
29
Durability of Response to Zoledronate Treatment and Competing Mortality in Paget's Disease of Bone. ( 27808435 )
2016
30
Imaging of Paget's disease of bone. ( 27761746 )
2016
31
Diagnosis and treatment of Paget's disease of bone : AA clinical practice guideline. ( 27600563 )
2016
32
Paget's Disease of Bone: Approach to Its Historical Origins. ( 27061664 )
2016
33
IMAGES IN CLINICAL MEDICINE. Paget's Disease of Bone. ( 27028916 )
2016
34
Denosumab-induced severe hypocalcemia in a patient with Paget's disease of bone and impaired renal function. ( 27745697 )
2016
35
Editorial: Paget's disease of bone. ( 27853907 )
2016
36
Two diagnoses from bone marrow biopsy: multiple myeloma and Paget's disease of bone. ( 26912764 )
2016
37
Treatment of Paget's Disease of Bone with Denosumab: Case Report and Literature Review. ( 27193832 )
2016
38
Development of a molecular test of Paget's disease of bone. ( 26772620 )
2016
39
Unusual presentation of Paget's disease of bone. ( 26944376 )
2016
40
An unusual presentation of metastatic bone disease in a subject with Paget's disease of bone. ( 27843872 )
2016
41
Long-Term Effects of Intravenous Ibandronate in Paget's Disease of Bone. ( 27866237 )
2016
42
Asymptomatic Paget's disease of bone in a 62-year-old Nigerian man: three years post-alendronate therapy. ( 26870373 )
2016
43
Epidemiology and pathology of Paget's disease of bone - aA review. ( 27600564 )
2016
44
Bone Quality in Paget's Disease of Bone. ( 26943142 )
2016
45
VAV3 Gene Polymorphism Is Associated with Paget's Disease of Bone. ( 27172236 )
2016
46
Paget's disease of bone-genetic and environmental factors. ( 26284446 )
2015
47
Paget's disease of bone: an osteoimmunological disorder? ( 26316708 )
2015
48
Periodontal disease in Paget's disease of bone. ( 26604949 )
2015
49
Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations. ( 25664955 )
2015
50
Uptake of (18)F-DCFPyL in Paget's Disease of Bone, an Important Potential Pitfall in Clinical Interpretation of PSMA PET Studies. ( 26807444 )
2015

Variations for Paget's Disease of Bone

ClinVar genetic disease variations for Paget's Disease of Bone:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104893941 GRCh37 Chromosome 5, 179263445: 179263445
2 SQSTM1 NM_003900.4(SQSTM1): c.1224dupT (p.Glu409Terfs) duplication Pathogenic rs796051869 GRCh38 Chromosome 5, 179836494: 179836494
3 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
4 SQSTM1 NM_003900.4(SQSTM1): c.1132A> T (p.Lys378Ter) single nucleotide variant Pathogenic rs796052213 GRCh38 Chromosome 5, 179833749: 179833749

Expression for Paget's Disease of Bone

Search GEO for disease gene expression data for Paget's Disease of Bone.

Pathways for Paget's Disease of Bone

Pathways related to Paget's Disease of Bone according to KEGG:

36
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380

GO Terms for Paget's Disease of Bone

Biological processes related to Paget's Disease of Bone according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.88 B2M BGLAP PTH TNFRSF11B
2 regulation of receptor activity GO:0010469 9.83 CALCA CSF1 PTH TNFRSF11B TNFSF11
3 tumor necrosis factor-mediated signaling pathway GO:0033209 9.78 TNFRSF11A TNFRSF11B TNFSF11
4 ossification GO:0001503 9.65 BGLAP TNFRSF11A TNFSF11
5 positive regulation of osteoclast differentiation GO:0045672 9.6 CSF1 TNFSF11
6 response to vitamin D GO:0033280 9.59 BGLAP PTH
7 mammary gland alveolus development GO:0060749 9.58 TNFRSF11A TNFSF11
8 monocyte chemotaxis GO:0002548 9.58 CALCA TNFRSF11A TNFSF11
9 positive regulation of bone resorption GO:0045780 9.57 DCSTAMP TNFSF11
10 regulation of osteoclast differentiation GO:0045670 9.56 BGLAP TNFSF11
11 positive regulation of ossification GO:0045778 9.55 CALCA PTH
12 response to inorganic substance GO:0010035 9.54 BGLAP TNFRSF11B
13 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.52 OPTN SQSTM1
14 positive regulation of macrophage differentiation GO:0045651 9.51 CALCA CSF1
15 negative regulation of bone resorption GO:0045779 9.49 CALCA TNFRSF11B
16 positive regulation of monocyte differentiation GO:0045657 9.46 CSF1 DCSTAMP
17 TNFSF11-mediated signaling pathway GO:0071847 9.37 TNFRSF11A TNFSF11
18 osteoclast proliferation GO:0002158 9.32 CSF1 TNFSF11
19 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.26 TNFRSF11A TNFSF11
20 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.16 TNFRSF11A TNFSF11
21 bone resorption GO:0045453 9.13 ACP5 PTH TNFSF11
22 osteoclast differentiation GO:0030316 8.92 CSF1 DCSTAMP TNFRSF11A TNFSF11

Molecular functions related to Paget's Disease of Bone according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 polyubiquitin modification-dependent protein binding GO:0031593 9.26 OPTN VCP
2 tumor necrosis factor-activated receptor activity GO:0005031 9.16 TNFRSF11A TNFRSF11B
3 identical protein binding GO:0042802 9.1 B2M CALCA CSF1 OPTN SQSTM1 VCP
4 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 8.96 OPTN SQSTM1

Sources for Paget's Disease of Bone

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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